Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with HPS exhibit albinism and a bleeding diathesis; additional features occur depending on the defective protein complex. Pulmonary fibrosis is associated with AP-3 and BLOC-3 deficiency, immunodeficiency with AP-3 defects, and gastrointestinal symptoms are more prevalent and severe in BLOC-3 deficiency. Therefore, identification of the HPS subtype is valuable for prognosis, clinical management, and treatment options. The prevalence of HPS is estimated at 1-9 per 1,000,000. Here we summarize 264 reported and novel variants in 10 HPS genes and estimate that~333 Puerto Rican HPS subjects and~385 with other ethnicities are reported to date. We provide pathogenicity predictions for missense and splice site variants and list variants with high minor allele frequencies. Current cellular and clinical aspects of HPS are also summarized. This review can serve as a manifest for molecular diagnostics and genetic counseling aspects of HPS.

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Health care behaviour of Hmong refugees in Sydney was investigated after research in the United States had shown that, within the Southeast Asian refugee community in that country, Hmong refugees not only had the lowest rates of use of Western medicine but also were the most likely to assess their quality of health as only fair (Brainard and Zaharlick, 1989, 849). In contrast, this study found that the Sydney Hmong generally used Western medicine as a system of first choice. At the same time, most continued to use traditional medicines, albeit in a modified form. Minimal costs, freedom to choose their own doctor and appropriate, long term health education were the most important factors in Hmong using Western medicine in Sydney. Other contributing factors included the structure and size of the community, the presence of a long‐term Hmong resident in Sydney upon arrival and familiarity with Western medicine. Thus, the Sydney Hmong community was able to maintain a reasonable quality of health at an affordable price. An unexpected finding was the improved social, economic and health status of Hmong women. Such differentiated results are a powerful argument for not looking at refugees as a homogenous group, even when investigating a single, national, ethnic or cultural group. This study highlighted both the multidisciplinary and transdisciplinary nature of health care behaviour and the contribution that a small in‐depth case study can make to health and migrant policy.